A151T (p.Ala151Thr) variant of BTD (Biotinidase)
A151T (p.Ala151Thr) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Biotinidase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A151T (p.Ala151Thr) variant details
- p.Ala151Thr
- rs13073139
- ClinGen CA285305
- ClinVar RCV000021936
- ClinVar RCV000031859
- Conflicting interpretations
- Biotinidase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.78
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Biotinidase deficiency)
- EBI: Pathogenic (in BTD deficiency)
- UniProt: Pathogenic (in BTD deficiency)
- Most common in the Non-Finnish European population (allele frequency 0.0006)
- Structural context available
- Cited in: Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by… (PMID 10206677)
- Cited in: Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States… (PMID 10400129)